Genes and Nutrition最新文献

{"title":"A multi-domain algorithm towards precision nutrition: integrating genetic risk scores and phenotypic diversity in the elderly, the MyFOOD4Senior study.","authors":"Cristina Álvarez-Martín, María Benavent, Natalia Úbeda, Ángela García-González, Nuria Martínez-Saez, María Purificación González, María Achón, Violeta Fajardo, Rocío de la Iglesia, Elena Alonso-Aperte","doi":"10.1186/s12263-026-00822-y","DOIUrl":"10.1186/s12263-026-00822-y","url":null,"abstract":"<p><strong>Background and aims: </strong>Older adults show substantial heterogeneity in health status, making it necessary to develop integrative tools for personalized nutrition assessment. This study aimed to develop and describe a preliminary multi-domain algorithm towards precision nutrition for older adults to generate personalized dietary and physical activity recommendations, and to evaluate its feasibility in a selected cohort of community-dwelling, healthy retirees.</p><p><strong>Methods: </strong>The algorithm was developed through a multi-step process. A literature review identified age-related conditions of interest and supported the definition of six health domains: Glucose Regulation, Nutritional Sufficiency, Cardiovascular Health, Physical Status, Digestive Health, and Circadian Rhythms. A nutrigenetic test was then designed, and relevant biochemical, anthropometric, dietary, lifestyle, physical activity, and genetic variables were selected and integrated into a multi-domain scoring system, summing up to an Overall Score. The algorithm was applied to participants from the MyFOOD4Senior study (n = 120).</p><p><strong>Results: </strong>The nutrigenetic test comprised 26 single nucleotide polymorphisms (SNPs), from which four candidate-SNP genetic risk scores (GRS) were derived: type 2 diabetes, vitamin D deficiency, cardiovascular disease, and strength deficiency. In addition to genetic information, the algorithm integrated dietary intake, micronutrient biomarkers, anthropometry, physical performance and digestive function into domain‑specific scores, providing an Overall Score (mean: 79.86 ± 10.02 points). Cluster analysis identified three health phenotypes: Reference/Healthy (n = 40), Frailty-like (n = 36), and Cardiovascular Risk-like (n = 44). The Frailty phenotype showed the lowest scores for Physical Status, Glucose Regulation, and Nutritional Sufficiency, whereas the Cardiovascular Risk-like phenotype was characterized by the lowest Cardiovascular Health score.</p><p><strong>Conclusion: </strong>This study presents the development of a multi-domain algorithm intended to advance the implementation of precision nutrition for active, community-dwelling older adults. By integrating multidimensional biological, functional, and nutritional variables, this framework provides a comprehensive approach to health phenotyping, establishing a solid basis for future longitudinal validation before its potential application in personalized geriatric nutrition.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov identifier NCT07461883 (Registration date 03102026).</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":"21 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149118979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polyunsaturated fatty acids modulation of smoking-related epigenetics and pulmonary outcomes.","authors":"Bonnie K Patchen, Woei-Yuh Saw, E Kate Phillips, Bruce D Levy, Aldric Rosario, Michael H Cho, Edwin K Silverman, Dana B Hancock, Patricia A Cassano, Dawn L DeMeo","doi":"10.1186/s12263-026-00812-0","DOIUrl":"10.1186/s12263-026-00812-0","url":null,"abstract":"<p><strong>Background: </strong>Cigarette smoking results in epigenetic alterations that persist after smoking cessation and is a major risk factor for chronic lung disease. Polyunsaturated fatty acids (PUFAs) may promote epigenetic recovery and support lung health. We aimed to characterize PUFA biomarker associations with lung phenotypes in high-risk populations with a smoking history and determine whether smoking-related DNA methylation (DNAm) mediates these associations.</p><p><strong>Methods: </strong>In this observational study we analyzed blood-based omega-3 and omega-6 PUFA biomarkers, spirometry, chest computed tomography (CT) measures, and smoking-related DNAm in 3857 former and current smokers in the Genetic Epidemiology of COPD (COPDGene) study. PUFA associations with lung phenotypes and DNAm were modeled with robust linear regression and linear mixed models. Mediation analysis estimated PUFA effects mediated through DNAm. Models adjusted for demographics, smoking history, genotype principal components, and, where relevant, cell type proportions and CT scanner. Replication in blood and extension to lung tissue were tested in the Lung Tissue Resource Consortium (LTRC).</p><p><strong>Results: </strong>Higher omega-3s were associated with higher lung function, less emphysema, and less airway wall thickening, while higher omega-6s and a higher omega 6:3 ratio were associated with worse lung phenotypes. Higher omega-3s and omega-6s were each associated with higher DNAm at cg05575921 in the aryl hydrocarbon receptor repressor gene (AHRR), lower epigenetic smoking scores, and a slower epigenetic pace of aging; the omega 6:3 ratio showed opposite associations. Smoking-related DNAm partially mediated some PUFA- lung phenotype asssociations. Omega-3s showed beneficial direct and mediated effects; some omega-6s showed detrimental direct effects but beneficial mediated effects; and the omega 6:3 ratio showed detrimental direct and mediated effects. For example, direct and AHRR DNAm-mediated effects on FEV1 were 0.0201 and 0.0049 for total omega-3s, -0.0049 and 0.0009 for total omega-6s, and - 0.0074 and - 0.0014 for the omega 6:3 ratio. Replication analysis in LTRC generally showed consistent directions of effects across blood and lung tissue.</p><p><strong>Conclusions: </strong>PUFAs may mitigate smoking-related epigenetic alterations, with omega-3s particularly associated with better lung outcomes. These findings have implications for PUFA-focused precision nutrition strategies in high-risk populations.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13613738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of synbiotic supplementation on oxidative stress biomarkers in adults: an updated GRADE-assessed systematic review and meta-analysis of randomized controlled trials.","authors":"Mohammad Vesal Bideshki, Maedeh Nojoumi, Mehrdad Behzadi, Nasir Arefinia, Hedyeh Askarpour, Zahra Sohrabi, Mohammad Esmailian, Mohammad Ali-Hassanzadeh","doi":"10.1186/s12263-026-00809-9","DOIUrl":"10.1186/s12263-026-00809-9","url":null,"abstract":"<p><strong>Background: </strong>Synbiotics (combined probiotics + prebiotics) may ameliorate oxidative stress via gut microbiota-mediated mechanisms. However, previous syntheses were limited in biomarker scope and contaminated by retracted or compromised trials. This updated meta-analysis of randomized controlled trials (RCTs) aims to quantify the effects of synbiotic supplementation on a comprehensive panel of oxidative stress biomarkers in adults and to appraise the certainty of evidence.</p><p><strong>Methods: </strong>Following PRISMA guidance and a registered protocol, RCTs in adults comparing oral synbiotic supplementation (≥ 3 weeks) versus placebo were eligible. Primary outcomes were changes in malondialdehyde (MDA), total oxidant status (TOS), oxidative stress index (OSI), nitric oxide (NO), total antioxidant capacity (TAC), superoxide dismutase (SOD), glutathione peroxidase (GPx), and reduced glutathione (GSH). Data were pooled using a random-effect model (standardized mean differences, SMD; 95% CI). Heterogeneity (I²), sensitivity, subgroup and publication-bias analyses were performed. Evidence certainty was rated with GRADE; studies formally retracted or with serious concerns were excluded.</p><p><strong>Results: </strong>Eighteen RCTs were included. Synbiotic supplementation significantly reduced MDA (SMD: -0.87; 95% CI: -1.37, -0.37), TOS (SMD: -0.55; 95% CI: -1.03, -0.08) and OSI (SMD: -0.46; 95% CI: -0.78, -0.15). Antioxidant markers, including TAC (SMD: 0.25; 95% CI: 0.06, 0.43), SOD (SMD: 0.57; 95% CI: 0.13, 1.00), GSH (SMD: 0.70; 95% CI: 0.11, 1.28), and GPx (SMD: 1.40; 95% CI: 0.39, 2.40), were increased. GRADE ratings ranged from very low (MDA, GPx) to moderate (OSI).</p><p><strong>Conclusion: </strong>Synbiotic supplementation may improve certain oxidative stress biomarkers, including TAC, GSH, and MDA. However, findings for NO and OSI should be interpreted with caution due to the limited number of available studies and the low to very low certainty of evidence for some outcomes according to GRADE criteria. Further high-quality, large-scale RCTs are warranted to confirm these effects.</p><p><strong>Systematic review registration: </strong>https://www.crd.york.ac.uk/PROSPERO/view/CRD420251103060 .</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incorporating dietary information to enhance polygenic prediction models with applications to body mass index and type 2 diabetes.","authors":"Eunice Y Lee, Bryan L Dinh, Ji Tang, Samantha A Streicher, Xinran Wang, Subarna Biswas, He Tian, Xian Yu, Kekoa Taparra, Take Naseri, Satupa'itea Viali, Daniel E Weeks, Jenna C Carlson, Christopher A Haiman, Loïc Le Marchand, Gertraud Maskarinec, Lynne R Wilkens, Song-Yi Park, Charleston W K Chiang","doi":"10.1186/s12263-026-00811-1","DOIUrl":"10.1186/s12263-026-00811-1","url":null,"abstract":"<p><strong>Background: </strong>Polygenic predictors can enhance screening for metabolism-related traits such as body mass index (BMI) and type 2 diabetes (T2D). However, these predictors explain limited phenotypic variance and face implementation challenges in non-European populations. Dietary patterns are well-established metabolic risk factors that remain under-investigated in quantitative risk stratification models.</p><p><strong>Methods: </strong>We developed and evaluated risk stratification models combining polygenic predictors and data-driven dietary scores (DDS) for BMI and T2D in 14,346 Native Hawaiians from the Multiethnic Cohort (MEC-NH), a population with high prevalence of obesity and T2D. Using 5,374 participants with genetic data, we integrated publicly available large-scale GWAS summary statistics to develop cross-ancestry polygenic score (PGS) models using PRS-CSx. We developed DDS using machine learning algorithms on 520 dietary variables and evaluated model performance in held-out test sets.</p><p><strong>Results: </strong>Trans-ancestry PGS achieved better prediction accuracy than single-ancestry models for both phenotypes (partial R² [SE] = 0.12 [0.04] vs. 0.03-0.09 for BMI; liability R² [SE] = 0.09 [0.04] vs. 0.01-0.07 for T2D). The best-performing DDS was based on a Random Forest model and substantially explained BMI variation (partial R² [SE] = 0.12 [0.01]), comparable to genetic prediction. Combined models integrating PGS and DDS significantly outperformed single-predictor models for BMI (adjusted R² = 0.29 vs. 0.21, P < 10⁻¹¹⁷). For T2D, combined models showed marginal but significant improvement over PGS alone. The BMI dietary score additionally associated with multiple chronic diseases, with effects partially mediated through inflammatory and lipid pathways.</p><p><strong>Conclusion: </strong>Trans-ancestry polygenic scores and data-driven dietary scores provide complementary information for metabolic trait prediction. Combined genetic-dietary models significantly outperform single-predictor approaches, with improvement being most pronounced for BMI. In Native Hawaiians, systematic integration of dietary information substantially improved BMI prediction, demonstrating the value of incorporating modifiable environmental factors alongside genetic information.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13523231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148279971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quercetin and low-dose gamma irradiation modulate oxidative stress, inflammation, autophagy, and apoptosis in DEN-induced hepatocarcinogenesis.","authors":"Nayera S Khatab, Nermeen M Elbakary, Mohamed Ali, Rokaya E Maarouf, Faten Zahran","doi":"10.1186/s12263-026-00810-2","DOIUrl":"10.1186/s12263-026-00810-2","url":null,"abstract":"<p><strong>Background: </strong>Diethylnitrosamine (DEN) induces hepatic injury and can promote hepatocarcinogenesis. Quercetin (QR) and low-dose gamma irradiation (LDR) have been explored as hepatoprotective and anticancer-modulating agents, but their combined effects in DEN-induced liver cancer have not been previously examined.</p><p><strong>Aim: </strong>To, for the first time, evaluate the novel combination of QR with LDR and compare its efficacy to QR or LDR alone in modulating DEN-induced liver cancer.</p><p><strong>Methods: </strong>Hepatic injury was induced in ninety male rats by intraperitoneal DEN administration (75 mg/kg weekly for 3 weeks, then 100 mg/kg weekly for 3 weeks). After 6 weeks, hepatic injury establishment was confirmed histopathologically in a subset of rats. Animals were then randomized into five groups for an 8-week treatment period: (C) normal control; (DEN) no further treatment; (DEN + QR) quercetin (50 mg/kg/day, oral); (DEN + IR) fractionated low-dose γ-irradiation (0.25 Gy once weekly for 4 weeks, total 1 Gy); (DEN + QR+IR) combined QR + IR. The total experimental duration was 14 weeks.</p><p><strong>Results: </strong>DEN induced severe hepatotoxicity, with significantly elevated serum ALT and AST compared to controls (p < 0.001). Markers of oxidative stress were markedly increased, while antioxidant enzymes and GSH were significantly reduced (p < 0.001). DEN also led to substantial activation of inflammatory and growth signaling pathways, including NF-κB, STAT-3, mTOR, and p38 MAPK (p < 0.001). Autophagy markers ULK-1, LC3-II, and ATG5 were significantly suppressed, and a pro-survival shift was evident with reduced caspase-3 activity and increased BCL-2 expression (p < 0.001).Treatment with quercetin (DEN + QR) or low-dose γ-irradiation (DEN + IR) alone significantly mitigated these alterations versus DEN, restoring liver enzymes, reducing oxidative stress and inflammation, and promoting apoptotic signaling (p < 0.001). The combination therapy (DEN + QR+IR) produced the most pronounced effects, with greater normalization of all biochemical and molecular parameters compared to DEN and to either monotherapy (p < 0.001). These changes were statistically superior to those observed with quercetin or irradiation alone (p < 0.01). Flow cytometry confirmed enhanced apoptosis and altered cell cycle dynamics in the combination group. Histopathological analysis showed markedly improved hepatic architecture and the lowest pathology scores with combination therapy (p < 0.001 vs. DEN).</p><p><strong>Conclusion: </strong>This study reveals, for the first time, a combined hepatoprotective effect of quercetin with low-dose gamma irradiation in DEN-induced liver pathology, suggesting new mechanistic insights and promising translational potential for combined therapy in DEN-associated liver injury and hepatocarcinogenesis.</p><p><strong>Clinical trial: </strong>This work isn't a clinical Trial.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":"21 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13277247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148280019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Camelina seeds and their glucosinolate, glucocamelinin, counteract severe fatty liver in rodents with monogenic obesity.","authors":"Adam Jurgoński, Paulina M Opyd, Dorota Napiórkowska, Bartosz Fotschki, Łucja Brzuzan","doi":"10.1186/s12263-026-00807-x","DOIUrl":"10.1186/s12263-026-00807-x","url":null,"abstract":"<p><strong>Background: </strong>Obesity is associated with metabolic dysfunction-associated steatotic liver disease (MASLD), for which drugs and nutraceuticals are being developed. We investigated whether camelina seeds from the Brassicaceae family and their components can attenuate metabolic disorders in animal models of genetic obesity, including fatty liver.</p><p><strong>Methods: </strong>In two separate 5-week experiments, female obese (fa/fa) Zucker rats and female db/db mice were used. By appropriately incorporating camelina seeds or their oil into the diet, we investigated, in the rat model, the effects of the oil and non-oil fractions on intestinal and liver function, as well as on lipid metabolism. Subsequently, in a mouse model, oral administration of glucocamelinin, the main camelina glucosinolate, was performed to determine whether this group of compounds might be responsible for the observed beneficial effects.</p><p><strong>Results: </strong>Dietary camelina seeds counteracted liver hypertrophy and steatosis in obese rats, as confirmed by macroscopic and histological images, along with a several-fold lower content of total fat, triglycerides, and cholesterol (p < 0.01 for each). The rat experiment indicated that the non-oil fraction of camelina seeds was responsible for these beneficial effects. Oral glucocamelinin attenuated liver hypertrophy and steatosis in obese mice, as confirmed by macroscopic and histological images, along with considerably lower total fat (p < 0.05) and cholesterol (p < 0.01) contents. In both obese rats and mice, these and other beneficial effects were associated with alterations in the hepatic expression of genes crucial to lipid and glucose metabolism, including a higher expression of those encoding thyroid hormone receptor β (THR-β; p < 0.01 and p < 0.05) and fibroblast growth factor 21 (FGF21; p < 0.01 and p < 0.05).</p><p><strong>Conclusion: </strong>These findings indicate that camelina seeds may be considered both a dietary component and a source of bioactive glucosinolates relevant to MASLD. The mechanism behind the lipid-lowering effect of glucocamelinin may involve hepatic activation of FGF21 signaling through THR-β.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13459901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148195079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A flexible synthetic diet platform for Drosophila nutrigenomics.","authors":"Zoriana Novosiadla, Sarah Mele, Emily Kerton, John Christodoulou, Sebastian Dworkin, Matthew D W Piper, Travis K Johnson","doi":"10.1186/s12263-026-00808-w","DOIUrl":"10.1186/s12263-026-00808-w","url":null,"abstract":"<p><strong>Background: </strong>Nutrient-gene interactions are key determinants of metabolic disease phenotypes, but systematic analysis remains constrained by the labour required to generate precisely defined diets. To address this, we developed a flexible method for assembling synthetic diets for Drosophila melanogaster from individual stock solutions, enabling rapid and controlled modification of dietary composition.</p><p><strong>Results: </strong>Using this approach, we generated a rational array of 51 diets in which single nutrients were varied systematically. We first showed that diets prepared using the flexible method performed comparably to standard preparation methods in wild-type flies, with similar developmental timing, survival, adult body weight, and starvation resistance. As a proof-of-concept, we then applied this dietary array to a Drosophila model of isolated sulfite oxidase deficiency, a severe metabolic disorder caused by defective sulfur amino acid catabolism. This validated previously identified nutrient-specific effects, including survival and pupariation rescue by cysteine depletion, while also revealing additional amino acid-modified diets that improved pupal survival.</p><p><strong>Conclusions: </strong>This platform provides a scalable and versatile in vivo framework for systematically interrogating genotype-specific nutritional responses in Drosophila. It should facilitate the identification of diet-gene interactions relevant to metabolic disease and support broader nutritional screening across disease models.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13455160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148165691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Common genetic variants in vitamin D metabolism-related genes affect gut microbiota diversity in postmenopausal women.","authors":"Adriana Becerra-Cervera, Rogelio F Jiménez-Ortega, Diana I Aparicio-Bautista, Tania V López-Pérez, Edgar Denova-Gutiérrez, Berenice Palacios-González, Alberto Hidalgo-Bravo, Samuel Canizales-Quinteros, Jorge Salmerón, Berenice Rivera-Paredez, Rafael Velázquez-Cruz","doi":"10.1186/s12263-026-00806-y","DOIUrl":"10.1186/s12263-026-00806-y","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have demonstrated that vitamin D (VD) influences gut microbiota (GM) by regulating epithelial barrier function and immune responses, thereby affecting microbial composition and diversity. Additionally, host genetic factors, particularly single-nucleotide variants (SNVs) in genes related to VD metabolism, may influence GM composition. Postmenopausal women are a particularly relevant population to assess the impact of these SNVs, as this group experiences reduced hormonal variability and a higher burden of vitamin D deficiency (VDD), enabling clearer evaluation of the association between vitamin D-related genetic variants and gut microbiota composition.</p><p><strong>Objective: </strong>To explore the relationship between SNVs in genes involved in VD metabolism and their impact on GM.</p><p><strong>Methods: </strong>We genotyped nine variants: rs10741657 (CYP2R1), rs6013897 (CYP24A1), rs10877012 (CYP27B1), rs10783219 and rs4516035 (VDR), rs4588 and rs7041 (GC), rs4944957 and rs3794060 (NADSYN1). GM was characterized by sequencing the V4 hypervariable region of the 16S rRNA gene. We compared taxon abundance at the genus level across host genotypes using the dominant model. Quantile regression was used to analyze non-mean diversity responses, and PICRUSt2 identified functional pathways. We also calculated the genetic risk score (GRS) using rs4516035, rs3794060, and rs4944957, which were associated with lower alpha diversity.</p><p><strong>Results: </strong>Alpha microbial diversity differed significantly for the VDR (rs4516035) and NADSYN1 (rs3794060, rs4944957) variants, both for risk alleles and genotypes. Differential abundance analysis identified taxonomic disparities, notably in the genera DTU014, Fusobacterium, Negativibacillus, Pseudomonas, Peptococcus, and [Clostridium]_innocuum_group. PICRUSt2-predicted functional pathways for the rs4516035- C allele revealed significant glutamine-glutamate, folate, galactose, and fatty acid metabolism. A GRS was associated with lower alpha diversity indices and differences in the insulin signaling pathway and oxidative phosphorylation.</p><p><strong>Conclusions: </strong>These findings highlight the role of SNVs in GM modulation and suggest potential implications for VD metabolism and host health.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13361054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147977331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of the ITLN1 gene polymorphism with dietary patterns, glycemic factors, and anthropometric indices in women with prediabetes.","authors":"Roghayeh Molani-Gol, Sana Aftabi-Yousefabad, Golnoosh Azarsina, Dariush Shanehbandi, Mahsa Malekian, Mohammad Asghari Jafarabadi, Maryam Rafraf","doi":"10.1186/s12263-026-00802-2","DOIUrl":"10.1186/s12263-026-00802-2","url":null,"abstract":"<p><strong>Background: </strong>Prediabetes is an early stage of type 2 diabetes mellitus (T2DM) that is prevalent around the world. A combination of genetic and lifestyle factors is contributed in conversion of prediabetes to T2DM. The present study aimed to investigate the association of the ITLN1 gene Val109Asp polymorphism with dietary patterns, glycemic factors, and anthropometric indices in women with prediabetes.</p><p><strong>Methods: </strong>This cross-sectional study was carried out on 202 women with prediabetes aged 18-65 years who were selected from the healthcare center using the convenience sampling method. Fasting blood samples, anthropometric measurements, and information about the dietary intake of the participants were collected. The ITLN1 gene Val109Asp polymorphism genotypes were recognized by the high-resolution melting-polymerase chain reaction (HRM-PCR) method. Dietary patterns were obtained by exploratory factor analysis and JASP software. Data analyses were conducted by analysis of covariance and ordinal regression using IBM SPSS Statistics software.</p><p><strong>Results: </strong>AA, AT, and TT genotypes of the ITLN1 polymorphism were found in 15.8%, 52.0%, and 32.2% of participants, and three dietary patterns, including vegetarian, high-fat, and mixed dietary patterns, were extracted. According to the ordinal regression, participants in the AT genotype had a lower chance of having a high-fat dietary pattern compared to the AA genotype (Adjusted odds ratio (AOR) (CI 95%): 0.466 (0.219, 0.989), p = 0.047). The ANCOVA test also indicated that participants with the AT (Mean difference (MD) (CI 95%): -3.073 (-5.245, -0.901), p = 0.007) and TT (MD (CI 95%): -3.188 (-5.513, -0.862), p = 0.006) genotypes had a decreased body weight compared to the AA genotype. Moreover, women in the TT genotype group had higher waist circumference compared to the AA genotype (MD (CI 95%): 2.557 (0.060, 5.055), p = 0.045). Individuals with genotypes AT (MD (CI 95%): 0.028 (0.011, 0.044), p = 0.001) and TT (MD (CI 95%): 0.022 (0.005, 0.040), p = 0.013) also have higher WHthR compared to the AA genotype. There was no significant association between the ITLN1 polymorphism genotypes and glycemic parameters in the adjusted model.</p><p><strong>Conclusion: </strong>The findings revealed a link between the ITLN1 Val109Asp polymorphism and dietary pattern 2 and general and central obesity in women with prediabetes. Further well-designed studies are required to confirm these findings and clarify the association of the ITLN1 polymorphism with glycemic factors.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13348269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147960632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between elongation of very long-chain fatty acids (ELOVL) 2 polymorphism rs953413 and blood n-3 HUFA levels: a secondary analysis of EPA treatment in the seAFOod polyp prevention trial.","authors":"Ge Sun, John R Davies, Tracey Mell, Mark Harland, Rasha N M Saleh, Amanda D Race, Paul M Loadman, Anne Marie Minihane, Mark A Hull","doi":"10.1186/s12263-026-00797-w","DOIUrl":"10.1186/s12263-026-00797-w","url":null,"abstract":"<p><strong>Background: </strong>Individuals receiving a standardised daily dose of 2000 mg of the n-3 highly unsaturated fatty acid (HUFA) eicosapentaenoic acid (EPA) for 12 months in the seAFOod polyp prevention trial demonstrated wide inter-individual variability in red blood cell (RBC) EPA levels (expressed as % of total measured fatty acids). Eicosapentaenoic acid can be converted to n-3 docosapentaenoic acid (n-3DPA) by the elongase elongation of very long-chain fatty acids (ELOVL) 2. We tested whether single nucleotide polymorphisms (SNPs) in ELOVL2 (rs3734398, rs2236212, rs953413, rs3798713, rs9393903) are associated with differential RBC EPA and n-3DPA levels in seAFOod trial participants at baseline and while receiving EPA supplementation.</p><p><strong>Results: </strong>Six hundred and three seAFOod trial participants had ELOVL2 genotype and RBC n-3 HUFA data. All five ELOVL2 SNPs were in strong linkage disequilibrium (R²> 0.95). Therefore, we focussed on rs953413 (genotype frequency: GG 30.8%, GA 50.1% and AA 19.1%), as the best characterised SNP, which is believed to be functional in human liver cells. Prior to trial intervention, minor (A) homozygotes displayed higher levels of n-3DPA (P < 0.01), but not EPA (P > 0.05), in RBCs than major (G) allele carriers. The trend towards a greater increase in n-3DPA values in AA homozygotes during EPA treatment compared with GA heterozygotes or GG homozygotes did not reach statistical significance. There was also no significant difference in the change in RBC EPA or DHA levels during EPA treatment according to rs953413 genotype.</p><p><strong>Conclusions: </strong>A secondary analysis of the seAFOod trial found that minor (A allele) homozygotes for the ELOVL2 SNP rs953413 have a higher baseline RBC n-3DPA level than G allele carriers. However, rs953413 genotype did not significantly influence ΔEPA, Δn-3DPA, or ΔDHA levels during 6 or 12 months of high-dose EPA supplementation. Therefore, we do not provide evidence that genetic variation in ELOVL2 contributes to the inter-individual variability in the circulating EPA level associated with high-dose EPA supplementation.</p>","PeriodicalId":55123,"journal":{"name":"Genes and Nutrition","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147943907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}